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Financiado por um membro do IRDiRC = Membro de uma ERN =

Projetos de investigação

FRANCA

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

ALEMANHA

Nordrhein-Westfalen
BAD OEYNHAUSEN

Molekular diagnosis and pathomechanism in pseudoxanthoma elasticum
Ruhr-Universität Bochum
Institut für Laboratoriums- und Transfusionsmedizin

BELGICA

OOST-VLAANDEREN
GENT

Designing an integrated platform for the development of more precise medicine in Heritable Thoracic Aortic Disease
Center for Medical Genetics Gent
Centrum voor Medische Genetica - UZ Gent

CANADA

Colombie-Britannique
VANCOUVER

Financiado por um membro do IRDiRCCellular Mechanisms underlying vascular dysfunction & aortic aneurysm in Marfan syndrome
University of British Columbia
CFRI - Child and Family Research Institute

ESPANHA

Madrid
MADRID

Financiado por um membro do IRDiRCEvaluation of the use of the fetal exome as a tool for identifying the genetic basis of major ultrasound abnormalities
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en genética y herencia

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

FRANCA

GRAND-EST
STRASBOURG CEDEX

Financiado por um membro do IRDiRCRare Invisible Disease and Schooling of Children
ESPE de Strasbourg
Equipe Apprentissages, pratiques d'enseignement et d'éducation

FRANCA

ILE-DE-FRANCE
CRÉTEIL

ITALIA

EMILIA ROMAGNA
MODENA

Pseudoxanthoma elasticum: from the understanding of pathogenetic mechanisms towards therapeutic perspectives
Università degli Studi di Modena e Reggio Emilia
LabGen - Laboratorio Sequenziamento Genomico

NORUEGA

Østlandet
NESODDTANGEN

The Norwegian Marfan Syndrome Study part 2: Reinvestigation after 10 years of adults with presumed Marfan syndrome
Sunnaas Rehabilitation Hospital
TRS kompetansesenter for sjeldne diagnoser

NORUEGA

Østlandet
OSLO

Cardiovascular complications, craniofacial aberrations, impaired breathing during sleep, sleep distruption, and fatigue in adults with verified Marfan syndrome
Lovisenberg Diakonale Sykehus AS
TAKO-senteret Nasjonalt kompetansesenter for oral helse ved sjeldne diagnoser

CANADA

Ontario
TORONTO

ESTADOS UNIDOS

New York
NEW YORK

ESTADOS UNIDOS

Washington
ADDRESS: NOT PROVIDED - US

Financiado por um membro do IRDiRCA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

FRANCA

ILE-DE-FRANCE
PARIS

Financiado por um membro do IRDiRCSTaHR : Stimulation of Targeted Homologous Recombination for Gene Therapy - FR
Muséum National d'Histoire Naturelle
Laboratoire Structure et Instabilité des Génomes - INSERM U1154 - CNRS 7196

FRANCA

PAYS DE LA LOIRE
NANTES

Financiado por um membro do IRDiRCFROGH : FRench Regional Origins in Genetics for Health - FR
Institut de Recherche en Santé - Université de Nantes
L'Institut du thorax - Inserm UMR 1087 / CNRS UMR 6291

JAPAO

JAPAN
TOKYO

Financiado por um membro do IRDiRCFormation of integrated omics analysis base of refractory diseases in children and perinatal period
National Center for Child Health and Development
Research Institute

SUICA

Suisse Alémanique
ZÜRICH

Molecular Basis and Pathology of Connective Tissue Disorders
Universitäts - Kinderspital Zürich - Eleonorenstiftung
Abteilung für Stoffwechselkrankheiten

Projetos de investigação multicêntricos